Primary mutation detection of mitochondrial DNA(mtDNA)in Leber's hereditary optic neuropathy patients

Objective To investigate the relationship between mitochondrial DNA 11778、3460 and 14484 point mutations and clinical characteristics of patients with Leber′s hereditary optic neuropathy. Methods PCR SSCP and direct mutation sequencing were used to detect mitochondrial DNA 11778、3460 and 14484 mutation in monozygotic twins suspected of Leber′s diseases and their relatives. Results PCR SSCP showed the monozygotic twin patients and their mother had point mutation at mtDNA 11778 and 3460,but there was no mutation at 14484.DNA sequencing showed 11915 locus had a T→A nucleotide mutation. Conclusions Leber′s disease results from point mutation in mitochondrial DNA.Multi point mutations which may include 11915 were also related to Leber′s disease.PCR SSCP can be used in patients who have optic neuropathy and are suspected of Leber′s disease for gene diagnosis.